ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)

gnomAD frequency: 0.00048  dbSNP: rs183674012
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179215 SCV000231426 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001083480 SCV000754661 likely benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083480 SCV001455240 likely benign Autosomal recessive polycystic kidney disease 2019-08-05 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000179215 SCV002033949 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000179215 SCV002035560 likely benign not provided no assertion criteria provided clinical testing

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